Saltiki Katerina, Alevizaki Maria
Endocrine Unit, Department of Clinical Therapeutics, School of Medicine, Alexandra Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Recent Results Cancer Res. 2025;223:237-246. doi: 10.1007/978-3-031-80396-3_9.
One of the components of the classical form of MEN2 syndromes is primary hyperparathyroidism (PHP). It occurs in 20-30% of the typical MEN2A syndrome. Recently, the prevalence in ret gene carriers is rarer possibly due to the increased recognition of cases who have familial MTC only. PHP is diagnosed more frequently in association with the exon 11, 634 mutation of the ret gene-so there is phenotype/genotype correlation. The clinical manifestations of PHP in MEN2 are usually mild and the peak age of diagnosis is after the third decade. The treatment is surgical excision of the enlarged gland(s). Although there can be multigland disease in the parathyroids, it is frequently the case that both hyperplasia and adenoma may coexist, or even a single adenoma may be found during the investigation and finally during the operation. Patients with MEN2 syndromes should be screened for PHP with serum calcium measurements. The intensity of the screening should be higher in those carrying the ret mutations most frequently associated with this manifestation.
MEN2综合征经典形式的组成部分之一是原发性甲状旁腺功能亢进症（PHP）。它在典型的MEN2A综合征中发生率为20% - 30%。最近，ret基因携带者中的患病率可能更低，这可能是由于仅患有家族性MTC的病例被更多地识别出来。PHP与ret基因外显子11的634突变相关，因此存在表型/基因型相关性。MEN2中PHP的临床表现通常较轻，诊断的高峰年龄在第三个十年之后。治疗方法是手术切除增大的腺体。虽然甲状旁腺可能存在多腺体疾病，但增生和腺瘤常常同时存在，甚至在检查期间以及最终手术时可能发现单个腺瘤。MEN2综合征患者应通过血清钙测量筛查PHP。对于携带与该表现最常相关的ret突变的患者，筛查强度应更高。
